Connexin Mutations In Brazilian Patients With Skin Disorders With Or Without Hearing Loss.

dc.creatorAlexandrino, Fabiana
dc.creatorde Oliveira, Camila Andréa
dc.creatorMagalhães, Renata F
dc.creatorFlorence, Michelle E B
dc.creatorde Souza, Elemir M
dc.creatorSartorato, Edi Lúcia
dc.date2009-Feb
dc.date2015-11-27T13:14:59Z
dc.date2015-11-27T13:14:59Z
dc.date.accessioned2018-03-29T01:08:26Z
dc.date.available2018-03-29T01:08:26Z
dc.identifierAmerican Journal Of Medical Genetics. Part A. v. 149A, n. 4, p. 681-4, 2009-Feb.
dc.identifier1552-4833
dc.identifier10.1002/ajmg.a.32765
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/19283857
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/198219
dc.identifier19283857
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1298452
dc.descriptionThe connexins are a family of proteins whose major function is as part of the gap junctions of cell-to-cell channels. They are expressed in several tissues including brain, skin, and cochlea. Mutations in connexin genes play a major role in non-syndromic sensorineural deafness, but have been also described in individuals with variable dermatological features. In recent years, many genes responsible for hereditary skin diseases have been discovered. These genes may encode different proteins that participate in the terminal differentiation of the epidermis. Therefore alteration or absence of these proteins causes a keratinization disorder. It has been demonstrated that distinct germline mutations within six connexin (Cx) genes GJB2 (Cx26), GJB6 (Cx30), GJB3 (Cx31), GJA1 (Cx43), GJB4 (Cx30.3), and GJB5 (Cx31.1), may cause sensorineural hearing loss and various skin disease phenotypes. The crucial functional importance of each of these connexins in the mentioned ectodermic tissues is reflected by the finding that genetic defects in their genes produce a wide spectrum of genetic disorders comprising sensorineural hearing loss, disorders of cornification of the skin, hair, and nails, and keratitis. Here, we report on different mutations in the connexin genes in individuals with or without hearing loss and different skin disorders illustrating the clinical and genetic heterogeneity of the condition.
dc.description149A
dc.description681-4
dc.languageeng
dc.relationAmerican Journal Of Medical Genetics. Part A
dc.relationAm. J. Med. Genet. A
dc.rightsfechado
dc.rights
dc.sourcePubMed
dc.subjectBrazil
dc.subjectConnexins
dc.subjectDna Mutational Analysis
dc.subjectGenotype
dc.subjectHearing Loss, Sensorineural
dc.subjectHumans
dc.subjectMutation
dc.subjectPhenotype
dc.subjectPolymorphism, Single Nucleotide
dc.subjectSkin Diseases, Genetic
dc.subjectSyndrome
dc.titleConnexin Mutations In Brazilian Patients With Skin Disorders With Or Without Hearing Loss.
dc.typeArtículos de revistas


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